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congenital plasminogen activator inhibitor type 1 deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.
Uniprot Description A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen.
Mondo Term and Equivalent IDs
MONDO:0013227:  congenital plasminogen activator inhibitor type 1 deficiency
GARD:0004381: 
MESH:C567640: 
NCIT:C133884: 
Orphanet:465: 
SCTID:717407006: